In the popular imagination, clinical settings are often viewed as being sterile, impersonal, and devoid of feeling. Physicians who have been practicing for any amount of time know that this is far from the truth. In fact, some of the most agonizing conversations take place in consultation rooms, and physicians are usually the first individuals to offer a shoulder to cry on and utter a word of encouragement.
When I was a medical student, we had an entire session on how to “break bad news.” Apparently, there is both a right way and wrong way to do so. To break bad news in a humane and thoughtful manner, we were taught to lower our voices, gently ease patients into accepting an unfavorable diagnosis, and offer support during what could very well be the worst day of their lives.
As physicians, we often have the unenviable position of observing all 5 stages of grief play out in real time. The loss of a limb, the destruction of a life well-planned, the prospect of losing a treasured loved one—these are some of the most heart-wrenching events a human being can go through.
Frankly, individuals who naturally lack empathy or the ability to express empathy are best suited to callings that exclude medicine. The findings of a study conducted by Hassan and colleagues exploring the lived experience of parents of children with lysosomal acid lipase deficiency (LAL-D) published in the Orphanet Journal of Rare Diseases demonstrate why.
The Eternal Question: Why?
LAL-D in children is known as Wolman disease. Patients with this condition are unable to metabolize cholesterol and lipids. The manifestations of this condition include vomiting and diarrhea, and an enlarged abdomen. Symptoms progress at an alarming pace and are fatal if medical intervention is not initiated.
Enzyme replacement therapy has helped to alleviate some of the symptoms of LAL-D, but the sheer complexity of the disease means that serious complications still arise. Digestive difficulties and feeding problems remain common among patients with LAL-D, and these symptoms can fluctuate with physical illness.
Read more about LAL-D etiology
This disease can be unpredictable, heterogeneous, and life-limiting. Given that no studies have explored the psychological impact of LAL-D on parents with children with this condition, the authors of the study sought to chart the lived experience of this cohort of parents.
They recruited parents of living children (n=8) with a confirmed diagnosis of infantile-onset LAL-D. Telephone interviews were conducted with participants and were intentionally designed to be semistructured. The interviewer was trained to be sensitive to the responses received, and offered short summaries of responses to ensure that they and the participants were on the same page. Different parents of the same child were also included, ensuring that they were able to offer their own distinct account of their experiences.
The research team discovered 3 main categories of concern among parents with children with LAL-D: (1) the heavy burden of disease uncertainty, (2) an overwhelming sense of powerlessness in battling against the disease, and (3) the difficulty in coming to terms with living with LAL-D.
“You get these impulses you know that you’re just paralysed with fear, you just don’t know what’s going to happen… it would knock you over when it hits you,” said Anna, a participant in this study.
It is important to reflect on how inadequately prepared parents can be to care for a sick child. This is perhaps an indictment on society as a whole, with childhood often spoken about in terms of future careers and potential, with little attention paid to the minority of children who may never live normal lives. It is therefore no surprise that a diagnosis such as LAL-D can come as a double shock as parents mourn the lives they have envisioned for their children.
“The psychological vulnerability of parents at the time of diagnosis, living within hospital and deterioration in their child’s condition needs to be considered and addressed within service provision to provide specialist psychological support for parents,” Hassall et al write.
Living With Chronic Illness
In Pediatrics, Blackwell and colleagues conducted a study to understand the general health and life satisfaction of children living with chronic illness.
Predictably, they reported that children with chronic illness have worse parent-reported general health compared with healthy children, and that chronic illness is associated with poorer life satisfaction. Nevertheless, the study also indicates that children with chronic diseases have similar levels of life satisfaction compared with their healthy peers, suggesting that a positive outlook on life can go a long way in helping ill children integrate well with other children and live a relatively fulfilling life.
Read more about LAL-D prognosis
Where does that leave us as physicians? Certainly, we must offer support to both children and parents who feel like their lives have been destroyed by an unexpected diagnosis. On the other hand, we must present a brave face and nudge patients and their parents to the possibility that a relatively normal life is still possible. With the right support, children with chronic illnesses can still thrive in their own way. As physicians, we should do everything in our power to support the life choices of our patients and their parents.
Hassall S, Smith DM, Rust S, Jones SA, Wittkowski A. “Why them, why me, why us?” The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study. Orphanet J Rare Dis. 2022;17(1):193. doi:10.1186/s13023-022-02335-4
Blackwell CK, Elliott AJ, Ganiban J, et al. General health and life satisfaction in children with chronic illness. Pediatrics. 2019;143(6):e20182988. doi:10.1542/peds.2018-2988